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Article

The porphyrias: advances in diagnosis and treatment.

Blood - 29 Nov 2012

Balwani Manisha, Desnick Robert J

Abstract excerpt

The inborn errors of heme biosynthesis, the porphyrias, are 8 genetically distinct metabolic disorders that can be classified as "acute hepatic," "hepatic cutaneous," and "erythropoietic cutaneous" diseases. Recent advances in understanding their pathogenesis and molecular genetic heterogeneity have led to improved diagnosis and treatment. These advances include DNA-based diagnoses for all the porphyrias, new...

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Identifiers

PMID: 22791288
DOI: 10.1182/blood-2012-05-423186
PMCID: PMC3512229

Genes

ALAS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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